Collagen, type IV, alpha 3

Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.^[5][6]

COL4A3
Identifiers
Aliases	COL4A3, collagen type IV alpha 3 chain, ATS2, ATS3
External IDs	OMIM: 120070; MGI: 104688; HomoloGene: 68033; GeneCards: COL4A3; OMA:COL4A3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q36.3 Start 227,164,624 bp[1] End 227,314,792 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C5 Start 82,564,642 bp[2] End 82,699,780 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii retinal pigment epithelium glutes renal medulla endothelial cell glomerulus triceps brachii muscle optic nerve metanephric glomerulus buccal mucosa cell Top expressed in epithelium of lens retinal pigment epithelium right lung right lung lobe right kidney human kidney left lung left lung lobe aortic valve iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent structural molecule activity protein binding metalloendopeptidase inhibitor activity integrin binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen endoplasmic reticulum lumen intracellular membrane-bounded organelle endoplasmic reticulum extracellular region basement membrane collagen type IV trimer extracellular space extracellular matrix collagen-containing extracellular matrix Biological process extracellular matrix organization hearing blood circulation cell adhesion endothelial cell apoptotic process cell population proliferation activation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of cell population proliferation cell surface receptor signaling pathway negative regulation of endopeptidase activity negative regulation of angiogenesis glomerular basement membrane development collagen-activated tyrosine kinase receptor signaling pathway response to glucose Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1285 12828 Ensembl ENSG00000169031 ENSMUSG00000079465 UniProt Q01955 Q9QZS0 RefSeq (mRNA) NM_000091 NM_031362 NM_031363 NM_031364 NM_031365 NM_031366 NM_007734 RefSeq (protein) NP_000082 NP_031760 Location (UCSC) Chr 2: 227.16 – 227.31 Mb Chr 1: 82.56 – 82.7 Mb PubMed search [3] [4]
Wikidata
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Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits; this gene encodes the alpha 3 subunit. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. In Goodpasture's syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand.^[6]